Mutagenetix > Incidental Mutation

Incidental Mutation 'R9684:Krt32'

728755

Institutional Source

Beutler Lab

Gene Symbol

Krt32

Ensembl Gene

ENSMUSG00000046095

Gene Name

keratin 32

Synonyms

mHa2, Krt1-2

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R9684 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99971674-99979095 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 99977308 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 197 (R197S)

Ref Sequence

ENSEMBL: ENSMUSP00000103042 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107419]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000107419
AA Change: R197S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103042
Gene: ENSMUSG00000046095
AA Change: R197S

Domain	Start	End	E-Value	Type
low complexity region	11	23	N/A	INTRINSIC
Filament	100	411	5.4e-150	SMART
low complexity region	435	448	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,283,307 (GRCm39)	D3243V	probably damaging	Het
Acot3	T	C	12: 84,105,650 (GRCm39)	L281P	probably benign	Het
Asb4	A	C	6: 5,398,296 (GRCm39)	H87P	probably damaging	Het
Ccnt1	A	T	15: 98,446,566 (GRCm39)	Y175N	probably damaging	Het
Cdh11	A	G	8: 103,391,327 (GRCm39)	V303A	probably benign	Het
Cdk19	T	A	10: 40,351,594 (GRCm39)	M297K	probably damaging	Het
Ces2c	A	C	8: 105,574,699 (GRCm39)	D52A	probably benign	Het
Cox10	C	T	11: 63,855,207 (GRCm39)	R358H	probably damaging	Het
Cryzl1	A	G	16: 91,487,634 (GRCm39)	I302T	probably benign	Het
Def6	T	C	17: 28,436,044 (GRCm39)	Y68H	probably damaging	Het
Dolpp1	A	G	2: 30,285,748 (GRCm39)	I49V	possibly damaging	Het
Ehmt1	T	C	2: 24,753,329 (GRCm39)	D357G	possibly damaging	Het
Ermp1	G	T	19: 29,594,106 (GRCm39)	T688N	probably benign	Het
F830016B08Rik	T	C	18: 60,433,043 (GRCm39)	I42T	probably damaging	Het
Gbp7	A	G	3: 142,240,327 (GRCm39)	E15G	possibly damaging	Het
Ghdc	A	G	11: 100,661,091 (GRCm39)	S25P	probably benign	Het
Gm45861	A	G	8: 28,014,601 (GRCm39)	N613S	unknown	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Gzmf	T	A	14: 56,444,444 (GRCm39)	D43V	probably benign	Het
Hdac10	C	A	15: 89,011,402 (GRCm39)	D172Y	probably damaging	Het
Lama5	T	C	2: 179,849,038 (GRCm39)	D215G	probably damaging	Het
M1ap	C	A	6: 82,945,094 (GRCm39)	H129Q	probably benign	Het
Mfsd3	A	G	15: 76,587,183 (GRCm39)	D312G	probably benign	Het
Muc5ac	A	G	7: 141,364,798 (GRCm39)	D2628G	probably benign	Het
Myoz3	T	C	18: 60,712,026 (GRCm39)	D184G	possibly damaging	Het
Ncor2	A	G	5: 125,102,139 (GRCm39)	L1217P		Het
Nepn	T	C	10: 52,276,801 (GRCm39)	V179A	probably benign	Het
Niban1	T	A	1: 151,593,538 (GRCm39)	I741N	possibly damaging	Het
Npr2	T	C	4: 43,632,491 (GRCm39)	Y103H	probably damaging	Het
Oosp3	A	T	19: 11,682,806 (GRCm39)	K158M	probably benign	Het
Or51i1	C	A	7: 103,671,079 (GRCm39)	G149C	probably damaging	Het
Or56a3	A	G	7: 104,735,589 (GRCm39)	Y222C		Het
Orc3	G	A	4: 34,607,135 (GRCm39)	T65I	probably benign	Het
Pcdhga7	T	C	18: 37,848,667 (GRCm39)	S225P	probably damaging	Het
Pcsk9	G	T	4: 106,307,386 (GRCm39)	L286I	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pnma1	T	C	12: 84,193,941 (GRCm39)	Y254C	probably benign	Het
Ppm1k	T	A	6: 57,487,762 (GRCm39)	N354Y	probably damaging	Het
Ralgapa1	T	C	12: 55,659,485 (GRCm39)	T2012A	possibly damaging	Het
Selp	T	A	1: 163,953,858 (GRCm39)	W53R	probably damaging	Het
Slc10a7	T	A	8: 79,456,304 (GRCm39)	V302E	possibly damaging	Het
Slc25a32	T	C	15: 38,969,339 (GRCm39)	I65V	probably benign	Het
Spesp1	A	G	9: 62,180,545 (GRCm39)	F121S	probably damaging	Het
Syncrip	T	C	9: 88,361,671 (GRCm39)	T110A	probably benign	Het
Tc2n	T	C	12: 101,660,818 (GRCm39)	D138G	probably benign	Het
Tnfrsf9	C	T	4: 151,018,865 (GRCm39)	P179S	probably benign	Het
Ube2r2	A	G	4: 41,183,329 (GRCm39)	T117A	probably benign	Het
Ush2a	A	C	1: 188,132,078 (GRCm39)	K767Q	possibly damaging	Het
Vdr	A	G	15: 97,767,285 (GRCm39)	V161A	probably benign	Het
Vmn1r33	T	C	6: 66,589,075 (GRCm39)	T160A	possibly damaging	Het
Vmn1r63	A	G	7: 5,805,913 (GRCm39)	S240P	probably benign	Het
Vmp1	T	C	11: 86,476,156 (GRCm39)	N400S	probably benign	Het
Zfp599	G	A	9: 22,160,824 (GRCm39)	T447I	probably damaging	Het

Other mutations in Krt32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01089:Krt32	APN	11	99,978,605 (GRCm39)	missense	probably benign	0.23
IGL01454:Krt32	APN	11	99,974,907 (GRCm39)	missense	probably damaging	1.00
IGL02268:Krt32	APN	11	99,978,967 (GRCm39)	missense	probably benign	0.21
IGL02502:Krt32	APN	11	99,978,749 (GRCm39)	missense	probably damaging	1.00
IGL02967:Krt32	APN	11	99,974,876 (GRCm39)	missense	possibly damaging	0.93
IGL02799:Krt32	UTSW	11	99,978,733 (GRCm39)	missense	possibly damaging	0.54
R0840:Krt32	UTSW	11	99,972,068 (GRCm39)	missense	probably benign	0.00
R1503:Krt32	UTSW	11	99,974,936 (GRCm39)	critical splice acceptor site	probably null
R1944:Krt32	UTSW	11	99,975,670 (GRCm39)	critical splice acceptor site	probably null
R1945:Krt32	UTSW	11	99,975,670 (GRCm39)	critical splice acceptor site	probably null
R2426:Krt32	UTSW	11	99,977,192 (GRCm39)	missense	possibly damaging	0.76
R3774:Krt32	UTSW	11	99,978,947 (GRCm39)	missense	probably benign	0.00
R3775:Krt32	UTSW	11	99,978,947 (GRCm39)	missense	probably benign	0.00
R3776:Krt32	UTSW	11	99,978,947 (GRCm39)	missense	probably benign	0.00
R5522:Krt32	UTSW	11	99,977,497 (GRCm39)	critical splice donor site	probably null
R5794:Krt32	UTSW	11	99,975,812 (GRCm39)	missense	probably damaging	0.99
R6109:Krt32	UTSW	11	99,978,791 (GRCm39)	missense	probably benign	0.01
R6994:Krt32	UTSW	11	99,977,271 (GRCm39)	missense	probably damaging	1.00
R7375:Krt32	UTSW	11	99,972,050 (GRCm39)	missense	probably benign	0.18
R7577:Krt32	UTSW	11	99,972,047 (GRCm39)	missense	probably benign	0.00
R8249:Krt32	UTSW	11	99,977,548 (GRCm39)	missense	probably benign	0.00
R9207:Krt32	UTSW	11	99,977,580 (GRCm39)	missense	possibly damaging	0.61
R9303:Krt32	UTSW	11	99,972,029 (GRCm39)	missense	probably benign	0.00
R9305:Krt32	UTSW	11	99,972,029 (GRCm39)	missense	probably benign	0.00
Z1088:Krt32	UTSW	11	99,979,042 (GRCm39)	missense	probably benign
Z1177:Krt32	UTSW	11	99,974,895 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GATGTAGGTGTTTCATGCCCAG -3'
(R):5'- CCAAGTGAGTTTGGTAGGGGAC -3'

Sequencing Primer
(F):5'- GGTCATATCCATGATCCAGGTAG -3'
(R):5'- ACTTTGTGGGGTAAGGAGTCTTCC -3'

Posted On

2022-10-06